A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13706684



Internal ID21228480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41249243..41249243hg38UCSC Ensembl
chr21:42621170..42621170hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2803914
Supporting Variants
Samples
Known GenesBACE2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13706684
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.875


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